The objective of the studies in this proposal are to apply an existing mass spectrometry laboratory to the identification of steroid profiles in patients with suspected disorders of steroid synthesis and/or catabolism. Preliminary results obtained over the past two years lead us to believe that we can use the proposed techniques both to confirm suspected disorders and to obtain new information about the biochemical cause(s) of these diseases. Our proven capability of obtaining a snapshot of a complete steroid profile (20-30 compounds in normal individuals) provides us with an understanding of the dynamic equilibrium of steroid biosynthesis for each individual studied. This type of dynamic information is difficult if not impossible to obtain using more classical techniques. The information obtained from the profile studies can then be utilized by a biochemist who can confirm or deny the hypothesis derived from the gc/ms data. This confirmation will be accomplished using classical techniques (enzyme, RIA, etc.) and the information can be used to determine the scope and prove the capabilities of the proposed gc/ms screening technique. Preliminary data from one of our pediatric cases may lead to a treatment that will prevent or modify substantially the patients developmental problems.